ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Department of Neuroscience, King Faisal Specialist Hospital and "uncertain significance" from any submitter

Minimum review status of the submission from Department of Neuroscience, King Faisal Specialist Hospital: Collection method of the submission from Department of Neuroscience, King Faisal Specialist Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_006486.3(FBLN1):c.1190G>T (p.Cys397Phe) rs397509432

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